A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275943



Internal ID22190339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:155874439..155914460hg38UCSC Ensembl
Outerchr5:155301449..155341470hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381587
hg191587
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217993
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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